# Clinicopathological Profile of Muscle Diseases Presenting the Adult Population in Northern India: Preliminary Analysis in a Limited Resource Setting

## TL;DR

This study analyzes muscle disease cases in adults from Northern India, highlighting the importance of timely diagnosis for effective treatment.

## Contribution

The study provides a preliminary analysis of muscle disease prevalence in a limited resource setting in Northern India.

## Key findings

- Becker’s muscular dystrophy was diagnosed in three out of 16 cases.
- Inflammatory myopathy was identified in two cases.
- Facioscapulohumeral muscular dystrophy was the most common diagnosis with four cases.

## Abstract

Background: Muscle diseases are of various types, viz., muscular dystrophies, inflammatory myopathies, myotonic disorders, congenital myopathies, and metabolic myopathies. They all present with muscle weakness, be it proximal or distal. The assessment of muscle biopsy with the help of enzyme histochemistry, histopathological, and immunohistochemical methods is an essential component in the diagnosis of neuromuscular disorders. The authors outline brief data on muscle diseases prevalent in the North Indian region.

Methods: Muscle biopsy was done, and the biopsy was freshly frozen in liquid nitrogen and sections were taken on a cryostat. Slides were then stained with hematoxylin and eosin (H&E), modified Gomori trichome (MGT), nicotinamide adenine dinucleotide hydrogenase (NADH), and succinic dehydrogenase (SDH) stains. Further specific immunohistochemistry tests were also done.

Result: Out of n=16 cases, three cases were diagnosed as Becker’s muscular dystrophy, two cases were diagnosed as inflammatory myopathy, four cases were diagnosed as Facioscapulohumeral muscular dystrophy, and one each case of dysferlinopathy and alpha sarcoglycanopathy.

Conclusion: Muscle diseases can cause different levels of physical disability and thus it is important to diagnose at the appropriate time to ensure proper treatment.